Abstract FLNA is a gene on the X chromosome that encodes Filamin A, a widely expressed protein crucial for forming the cell cytoskeleton and mediating cell signaling. Loss-of-function mutations have been associated with periventricular nodular heterotopia (PVNH) with associated epilepsy and intellectual deficits, as well as cardiovascular disease, connective tissue disorders, pulmonary disease, bleeding diathesis, and gastrointestinal disease. Alternatively, gain-of-function mutations have been described with otopalatodigital spectrum disorders. The loss-of-function variants of FLNA associated with PVNH have historically been considered lethal in males, often prenatally or by the first year of life. However, more surviving males with FLNA variants are being described. Most of the surviving males have missense or distal truncating mutations or a degree of mosaicism. Others are thought to have splice site mutations or in-frame exon skipping leading to production of some degree of functional Filamin A as possible mechanisms of survival. Here, we presented a case of a 20-month-old small but developmentally appropriate and healthy male infant who was prenatally diagnosed with PVNH, and postnatally found to have a nonsense variant of the FLNA gene. This mutation has not been previously clinically described or published to our knowledge.
National Rural Health Mission represents an important public health initiative to address essential health needs of the country's underserved population. For the Mission to achieve its goals, urban population needs to be included in its scope. Urban poor population constitutes nearly a third of India's urban population and is growing at three times the national population growth rate. Health status and access of reproductive and child health services of slum dwellers are poor and comparable to the rural population. Efforts to improve the conditions of urban poor necessitate strengthening national policy and fiscal mandate, augmenting and strengthening the urban health delivery system, coordinating among multiple stakeholders, involving private sector, strengthening municipal functioning and building community capacities. National Rural Health Mission should be broadened to National Public Health Mission. This paper discusses issues pertaining to health conditions of the urban poor, present status of services, challenges and suggests options for NRHM to bridge the large gap.
Subpial hemorrhage is an underrecognized type of hemorrhagic stroke primarily affecting neonates. Blood accumulation in the impermeable pia mater compresses the adjacent cortex, leading to injury. The consequences of this stroke type remain poorly understood. The study aims to evaluate the association between imaging findings and neurological outcomes at follow-up in neonates with subpial hemorrhage.
MATERIALS AND METHODS:
We retrospectively included neonates with suspected subpial hemorrhage who underwent brain MRI between January 2012 and February 2024. Two pediatric neuroradiologists evaluated MRIs for subpial hemorrhage location, size, and pattern using a previously described system that classified subpial hemorrhage only (Pattern A), subpial hemorrhage with cortical injury (Pattern B), and subpial hemorrhage with cortical injury and intraparenchymal hemorrhage (Pattern C). They also assessed for medullary vein engorgement/thrombosis. We extracted demographic data, perinatal events, hospital outcomes, and Alberta Infant Motor Scale (AIMS) scores, when available. Descriptive analysis was used for demographic, clinical, and imaging findings. Fisher9s exact test evaluated associations between clinical outcomes and imaging findings.
RESULTS:
Twenty-nine patients (median gestational age 38 weeks, IQR: 37-39) were included, with 82% having birthweights >2500g. Subpial hemorrhages were most commonly on the right side (66%) and in the temporal lobe (62%). Most hemorrhages measured 1-4 cm (59%). Pattern C (15/29, 52%) was associated with delayed motor development as assessed by AIMS (9/15, 60%) (p=.042), while Pattern B (10/29, 35%) was associated with near-normal motor development (6/15, 40%) (p=.044). There was no statistically significant association between concurrent superficial and deep medullary vein engorgement/thrombosis and the presence of any neurological deficit (p=.055).
CONCLUSIONS:
The association between subpial hemorrhage patterns and neurological outcomes, particularly motor development, may have important prognostic and management implications. In our cohort, a pattern C of subpial hemorrhage was significantly associated with delayed motor development. Concurrent involvement of superficial and deep medullary vessels may indicate a higher risk of poor neurological outcomes. These findings highlight the importance of early intervention and monitoring in neonates presenting with subpial hemorrhage. ABBREVIATIONS: AIMS= Alberta Infant Motor Scale; IQR= Interquartile Ranges; NICU= Neonatal Intensive Care Unit; SD= Standard Deviations.
Callosal agenesis is a complex condition with disruption in the steps such as cellular proliferation, migration, axonal growth, guidance, or glial patterning at the midline. Agenesis of the corpus callosum (AgCC) is associated with diverse midline craniofacial malformations affecting the frontal-cranial and midface skeleton. Diagnosing midline abnormalities prenatally can be challenging, especially in twin pregnancies, due to poor resolution of skull base structures on fetal MRI, basal cephalocele could be mistaken for fluid in the nasopharynx, motion limitation, and fetal positioning. Our case highlights the importance of evaluation for other associated midline anomalies when there is callosal agenesis.
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